Variant report

Variant	esv991241
Chromosome Location	chr15:45651729-45652944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr15:45652806-45653429	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45645298..45648263-chr15:45650931..45653328,2	K562	blood:

Variant related genes	Relation type
RNU6-953P	TF binding region
ENSG00000238941	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4774579	chr15:45651803-45651804	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559222795	chr15:45651838-45651839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535501270	chr15:45651842-45651843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555502550	chr15:45651870-45651871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571976667	chr15:45651872-45651873	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576997088	chr15:45651905-45651906	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541143326	chr15:45651962-45651963	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562404837	chr15:45651963-45651964	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540683501	chr15:45652034-45652035	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1145089	chr15:45652054-45652055	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs577444989	chr15:45652063-45652064	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4774580	chr15:45652086-45652087	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs562731719	chr15:45652122-45652123	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368629668	chr15:45652196-45652197	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62025168	chr15:45652278-45652279	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs186248330	chr15:45652317-45652318	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562057823	chr15:45652346-45652347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189315220	chr15:45652347-45652348	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547455265	chr15:45652353-45652354	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570874719	chr15:45652466-45652467	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181738348	chr15:45652471-45652472	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550106002	chr15:45652487-45652488	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370375836	chr15:45652529-45652530	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569819072	chr15:45652536-45652537	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186305666	chr15:45652593-45652594	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555465587	chr15:45652595-45652596	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139234020	chr15:45652609-45652610	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190372097	chr15:45652651-45652652	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534743681	chr15:45652689-45652690	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557464136	chr15:45652699-45652700	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1153858	chr15:45652703-45652704	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
32	rs4271549	chr15:45652730-45652731	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs556462608	chr15:45652742-45652743	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200260083	chr15:45652755-45652756	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397977385	chr15:45652758-45652759	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4627277	chr15:45652768-45652769	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs183771093	chr15:45652814-45652815	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532439295	chr15:45652824-45652825	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527784565	chr15:45652855-45652856	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541555956	chr15:45652857-45652858	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4395020	chr15:45652889-45652890	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs4625670	chr15:45652926-45652927	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs4534782	chr15:45652933-45652934	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45626000-45652000	Weak transcription	Brain Substantia Nigra	brain
2	chr15:45639200-45664200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:45639600-45661800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:45640600-45664200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:45640800-45664200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:45641200-45656400	Weak transcription	Gastric	stomach
7	chr15:45642600-45655600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:45646200-45652000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:45646200-45652400	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:45646600-45652200	Weak transcription	Placenta	Placenta
11	chr15:45647600-45657800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:45647800-45652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:45647800-45661600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:45648200-45668600	Weak transcription	Colonic Mucosa	Colon
15	chr15:45648400-45654200	Weak transcription	Brain Angular Gyrus	brain
16	chr15:45648400-45664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:45649200-45652600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:45649400-45651800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:45649600-45652200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:45649600-45656400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr15:45649800-45651800	Strong transcription	Liver	Liver
22	chr15:45650000-45652400	Strong transcription	Fetal Intestine Large	intestine
23	chr15:45650000-45654000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:45650000-45657800	Strong transcription	Brain Anterior Caudate	brain
25	chr15:45650000-45659000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:45650000-45664200	Weak transcription	HSMMtube	muscle
27	chr15:45650200-45656400	Weak transcription	Brain Germinal Matrix	brain
28	chr15:45650200-45657600	Weak transcription	Aorta	Aorta
29	chr15:45650400-45653200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:45650600-45653000	Strong transcription	Pancreas	Pancrea
31	chr15:45650600-45654800	Weak transcription	Fetal Stomach	stomach
32	chr15:45650600-45668000	Weak transcription	Right Ventricle	heart
33	chr15:45650800-45662000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr15:45651000-45653000	Strong transcription	Fetal Muscle Leg	muscle
35	chr15:45651400-45652000	Strong transcription	Fetal Intestine Small	intestine
36	chr15:45651400-45653400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:45651400-45653600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr15:45651400-45656400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr15:45651400-45656400	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr15:45651400-45656400	Strong transcription	Psoas Muscle	Psoas
41	chr15:45651600-45653000	Strong transcription	GM12878-XiMat	blood
42	chr15:45651600-45653200	Strong transcription	Adipose Nuclei	Adipose
43	chr15:45651600-45653200	Strong transcription	Left Ventricle	heart
44	chr15:45651600-45656400	Strong transcription	Brain Hippocampus Middle	brain
45	chr15:45651600-45656400	Strong transcription	Ovary	ovary
46	chr15:45651600-45662000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr15:45651600-45665600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr15:45651800-45653200	Genic enhancers	Liver	Liver
49	chr15:45651800-45661000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:45652000-45653000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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